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威廉姆斯(小精灵面容)综合征:文献综述及一例罕见病例报告

Williams (Elfin Facies) syndrome: review of the literature and report of a rare case.

作者信息

Boraz R A

机构信息

University of Kansas Medical Center.

出版信息

ASDC J Dent Child. 1991 Jan-Feb;58(1):57-9.

PMID:2033166
Abstract

Williams (Elfin Facies) syndrome is a rare, devastating, sporadic disorder first described in 1961. Approximately 100 cases have been reported in the literature. The disorder is characterized by multiple anomalies including mental deficiency, an unusual (elfin) facies, supravalvular aortic stenosis, prenatal and postnatal growth deficiency, infantile hypercalcemia, a small mandible, and frequent dental problems. Because of these anomalies, the dentist contributes significantly to the successful management of these patients. Infant dental care, nutrition counseling, and restorative care are extremely important for maximizing the quality of life for patients with Williams syndrome. A review of the literature and the successful management of a patient with Williams syndrome are presented.

摘要

威廉姆斯(小精灵面容)综合征是一种罕见的、严重的散发性疾病,于1961年首次被描述。文献中已报道了约100例病例。该疾病的特征是存在多种异常,包括智力缺陷、特殊(小精灵样)面容、主动脉瓣上狭窄、产前和产后生长发育迟缓、婴儿高钙血症、小下颌以及频繁的牙齿问题。由于这些异常情况,牙医在这些患者的成功治疗中发挥着重要作用。婴儿牙齿护理、营养咨询和修复治疗对于最大限度提高威廉姆斯综合征患者的生活质量极为重要。本文将对相关文献进行综述,并介绍一例威廉姆斯综合征患者的成功治疗情况。

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